Varaico: Literature-Extracted Genetic Variants

UBQLN2

425 papers

RefSeq Summary

This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a ...

Pfam Domains

ubiquitinaa 33–105UCSCUbiquitin family

UBQLN1aa 174–293UCSCUbiquilin-1-like domain

UBAaa 581–618UCSCUBA/TS-N domain

Gene Aliases

HGNC Name

ubiquilin 2

HGNC Alias Symbols

Chap1; Dsk2; RIHFB2157; LIC-2; CHAP1/DSK2; PLIC-2; N4BP4; PLIC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013444.4

p.L154I

c.460C>A

Surrounding Variants

1 paper

NM_013444.4

p.G153C

c.457G>T

5 papers

NM_013444.4

p.S155N

c.464G>A

1 paper

NM_013444.4

p.S156_L157delFs

c.468_469delCC

1 paper

NM_013444.4

p.L157M

c.469C>A

1 paper

NM_013444.4

p.G158D

c.473G>A

1 paper

NM_013444.4

p.L159V

c.475T>G

1 paper

NM_013444.4

p.T162P

c.484A>C

2 papers

NM_013444.4

p.L145F

c.435G>C

3 papers

NM_013444.4

p.L145F

c.435G>T

9 papers

NM_013444.4

p.N163I

c.488A>T

1 paper

NM_013444.4

p.F164C

c.491T>G

1 paper

NM_013444.4

p.P142R

c.425C>G